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Record W4282922005 · doi:10.1158/1078-0432.ccr-20-4774

Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer

2022· article· en· W4282922005 on OpenAlexaff
Peter A. Fasching, Duan Liu, Steve Scully, James N. Ingle, Paulo C. Lyra, Brigitte Rack, Alexander Hein, Arif B. Ekici, André Reis, Andreas Schneeweiß, Hans Tesch, Tanja Fehm, Georg Heinrich, Matthias W. Beckmann, Matthias Ruebner, Hanna Huebner, Diether Lambrechts, Ebony Madden, Jess Shen, Jane Romm, Kim Doheny, Gregory D. Jenkins, Erin E. Carlson, Liang Li, Brooke L. Fridley, Julie M. Cunningham, Wolfgang Janni, Álvaro N.A. Monteiro, Daniel J. Schaid, Lothar Häberle, Richard M. Weinshilboum, Liewei Wang

Bibliographic record

VenueClinical Cancer Research · 2022
Typearticle
Languageen
FieldMedicine
TopicNeutropenia and Cancer Infections
Canadian institutionsLunenfeld-Tanenbaum Research Institute
FundersNational Human Genome Research InstituteNational Cancer InstituteNational Institutes of HealthEli Lilly and CompanyUniversitätsklinikum ErlangenNational Institute of General Medical SciencesSanofiAstraZenecaChugai PharmaceuticalBreast Cancer Research Foundation
KeywordsGenome-wide association studyBiologyLocus (genetics)GenotypingBreast cancerGenotypeChemotherapyGenetic associationGeneticsGeneOncologyCancerMedicineSingle-nucleotide polymorphism

Abstract

fetched live from OpenAlex

PURPOSE: To identify molecular predictors of grade 3/4 neutropenic or leukopenic events (NLE) after chemotherapy using a genome-wide association study (GWAS). EXPERIMENTAL DESIGN: A GWAS was performed on patients in the phase III chemotherapy study SUCCESS-A (n = 3,322). Genotyping was done using the Illumina HumanOmniExpress-12v1 array. Findings were functionally validated with cell culture models and the genotypes and gene expression of possible causative genes were correlated with clinical treatment response and prognostic outcomes. RESULTS: One locus on chromosome 16 (rs4784750; NLRC5; P = 1.56E-8) and another locus on chromosome 13 (rs16972207; TNFSF13B; P = 3.42E-8) were identified at a genome-wide significance level. Functional validation revealed that expression of these two genes is altered by genotype-dependent and chemotherapy-dependent activity of two transcription factors. Genotypes also showed an association with disease-free survival in patients with an NLE. CONCLUSIONS: Two loci in NLRC5 and TNFSF13B are associated with NLEs. The involvement of the MHC I regulator NLRC5 implies the possible involvement of immuno-oncological pathways.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesInsufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.008
Threshold uncertainty score0.998

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.063
GPT teacher head0.453
Teacher spread0.390 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations7
Published2022
Admission routes1
Has abstractyes

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